Varaico: Literature-Extracted Genetic Variants

Gene:KMT5B
Variant:p.I554_E557del4
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KMT5B

NM_017635.5:p.I554_E557del4

Associated Papers

Combined Histological and Proteomic Analysis Reveals Muscle Denervation in KMT5B-Related Neurodevelopmental Disorder: A Case Report.

Aksel Kilicarslan O et al.

Journal of Clinical Medicine, 2025

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."